A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

Some causes of spastic paraplegia are treatable and many are not. Diagnostic work-up to determine the etiology can be costly and invasive. Here we report the case of a man with slowly progressive spastic paraparesis. Using a multigene next-generation sequencing (NGS) panel, we identified a novel var...

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Detalles Bibliográficos
Autores principales: Robbins, Nathaniel M., Ozmore, Jillian R., Winder, Thomas L., Gonzalez-Alegre, Pedro, Bardakjian, Tanya M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475752/
https://www.ncbi.nlm.nih.gov/pubmed/32908740
http://dx.doi.org/10.1155/2020/7219514

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